Ontology highlight
ABSTRACT:
SUBMITTER: Rosendahl J
PROVIDER: S-EPMC2650829 | biostudies-literature | 2008 Jan
REPOSITORIES: biostudies-literature
Rosendahl Jonas J Witt Heiko H Szmola Richárd R Bhatia Eesh E Ozsvári Béla B Landt Olfert O Schulz Hans-Ulrich HU Gress Thomas M TM Pfützer Roland R Löhr Matthias M Kovacs Peter P Blüher Matthias M Stumvoll Michael M Choudhuri Gourdas G Hegyi Péter P te Morsche René H M RH Drenth Joost P H JP Truninger Kaspar K Macek Milan M Puhl Gero G Witt Ulrike U Schmidt Hartmut H Büning Carsten C Ockenga Johann J Kage Andreas A Groneberg David Alexander DA Nickel Renate R Berg Thomas T Wiedenmann Bertram B Bödeker Hans H Keim Volker V Mössner Joachim J Teich Niels N Sahin-Tóth Miklós M
Nature genetics 20071202 1
Chronic pancreatitis is a persistent inflammatory disease of the pancreas, in which the digestive protease trypsin has a fundamental pathogenetic role. Here we have analyzed the gene encoding the trypsin-degrading enzyme chymotrypsin C (CTRC) in German subjects with idiopathic or hereditary chronic pancreatitis. Two alterations in this gene, p.R254W and p.K247_R254del, were significantly overrepresented in the pancreatitis group, being present in 30 of 901 (3.3%) affected individuals but only 21 ...[more]